JP2017530720A - 着床前遺伝子スクリーニングおよび異数性検出 - Google Patents

着床前遺伝子スクリーニングおよび異数性検出 Download PDF

Info

Publication number
JP2017530720A
JP2017530720A JP2017520484A JP2017520484A JP2017530720A JP 2017530720 A JP2017530720 A JP 2017530720A JP 2017520484 A JP2017520484 A JP 2017520484A JP 2017520484 A JP2017520484 A JP 2017520484A JP 2017530720 A JP2017530720 A JP 2017530720A
Authority
JP
Japan
Prior art keywords
chromosome
sequence
sample
nucleic acid
alignment
Prior art date
Legal status (The legal status is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the status listed.)
Withdrawn
Application number
JP2017520484A
Other languages
English (en)
Japanese (ja)
Inventor
グレゴリー ポレッカ,
グレゴリー ポレッカ,
Original Assignee
グッド スタート ジェネティクス, インコーポレイテッド
グッド スタート ジェネティクス, インコーポレイテッド
Priority date (The priority date is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the date listed.)
Filing date
Publication date
Application filed by グッド スタート ジェネティクス, インコーポレイテッド, グッド スタート ジェネティクス, インコーポレイテッド filed Critical グッド スタート ジェネティクス, インコーポレイテッド
Publication of JP2017530720A publication Critical patent/JP2017530720A/ja
Priority to JP2021145382A priority Critical patent/JP2021184757A/ja
Withdrawn legal-status Critical Current

Links

Classifications

    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C12Q1/6883Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6869Methods for sequencing
    • GPHYSICS
    • G16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B20/00ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • GPHYSICS
    • G16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B20/00ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G16B20/10Ploidy or copy number detection
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00Oligonucleotides characterized by their use
    • C12Q2600/172Haplotypes
JP2017520484A 2014-10-17 2015-10-16 着床前遺伝子スクリーニングおよび異数性検出 Withdrawn JP2017530720A (ja)

Priority Applications (1)

Application Number Priority Date Filing Date Title
JP2021145382A JP2021184757A (ja) 2014-10-17 2021-09-07 着床前遺伝子スクリーニングおよび異数性検出

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US201462065322P 2014-10-17 2014-10-17
US62/065,322 2014-10-17
PCT/US2015/056037 WO2016061514A1 (fr) 2014-10-17 2015-10-16 Criblage génétique de pré-implantation et détection d'aneuploïdie

Related Child Applications (1)

Application Number Title Priority Date Filing Date
JP2021145382A Division JP2021184757A (ja) 2014-10-17 2021-09-07 着床前遺伝子スクリーニングおよび異数性検出

Publications (1)

Publication Number Publication Date
JP2017530720A true JP2017530720A (ja) 2017-10-19

Family

ID=55747437

Family Applications (2)

Application Number Title Priority Date Filing Date
JP2017520484A Withdrawn JP2017530720A (ja) 2014-10-17 2015-10-16 着床前遺伝子スクリーニングおよび異数性検出
JP2021145382A Pending JP2021184757A (ja) 2014-10-17 2021-09-07 着床前遺伝子スクリーニングおよび異数性検出

Family Applications After (1)

Application Number Title Priority Date Filing Date
JP2021145382A Pending JP2021184757A (ja) 2014-10-17 2021-09-07 着床前遺伝子スクリーニングおよび異数性検出

Country Status (5)

Country Link
US (1) US20160108475A1 (fr)
EP (2) EP3240909B1 (fr)
JP (2) JP2017530720A (fr)
CA (1) CA3002133A1 (fr)
WO (1) WO2016061514A1 (fr)

Families Citing this family (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
AU2020296188B2 (en) * 2019-06-21 2023-08-24 Coopersurgical, Inc. System and method for determining genetic relationships between a sperm provider, oocyte provider, and the respective conceptus

Citations (5)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US20110288780A1 (en) * 2010-05-18 2011-11-24 Gene Security Network Inc. Methods for Non-Invasive Prenatal Ploidy Calling
WO2013052557A2 (fr) * 2011-10-03 2013-04-11 Natera, Inc. Procédés pour diagnostic génétique préimplantatoire par séquençage
WO2013148496A1 (fr) * 2012-03-26 2013-10-03 The Johns Hopkins University Détection rapide d'aneuploïdie
US20140206552A1 (en) * 2010-05-18 2014-07-24 Natera, Inc. Methods for preimplantation genetic diagnosis by sequencing
US20140228226A1 (en) * 2011-09-21 2014-08-14 Bgi Health Service Co., Ltd. Method and system for determining chromosome aneuploidy of single cell

Family Cites Families (64)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US5242794A (en) 1984-12-13 1993-09-07 Applied Biosystems, Inc. Detection of specific sequences in nucleic acids
US4683195A (en) 1986-01-30 1987-07-28 Cetus Corporation Process for amplifying, detecting, and/or-cloning nucleic acid sequences
US5583024A (en) 1985-12-02 1996-12-10 The Regents Of The University Of California Recombinant expression of Coleoptera luciferase
US4988617A (en) 1988-03-25 1991-01-29 California Institute Of Technology Method of detecting a nucleotide change in nucleic acids
US5494810A (en) 1990-05-03 1996-02-27 Cornell Research Foundation, Inc. Thermostable ligase-mediated DNA amplifications system for the detection of genetic disease
US5869252A (en) 1992-03-31 1999-02-09 Abbott Laboratories Method of multiplex ligase chain reaction
US6100099A (en) 1994-09-06 2000-08-08 Abbott Laboratories Test strip having a diagonal array of capture spots
US5604097A (en) 1994-10-13 1997-02-18 Spectragen, Inc. Methods for sorting polynucleotides using oligonucleotide tags
US5846719A (en) 1994-10-13 1998-12-08 Lynx Therapeutics, Inc. Oligonucleotide tags for sorting and identification
US5695934A (en) 1994-10-13 1997-12-09 Lynx Therapeutics, Inc. Massively parallel sequencing of sorted polynucleotides
US5750341A (en) 1995-04-17 1998-05-12 Lynx Therapeutics, Inc. DNA sequencing by parallel oligonucleotide extensions
US5701256A (en) 1995-05-31 1997-12-23 Cold Spring Harbor Laboratory Method and apparatus for biological sequence comparison
US5636400A (en) 1995-08-07 1997-06-10 Young; Keenan L. Automatic infant bottle cleaner
GB9620209D0 (en) 1996-09-27 1996-11-13 Cemu Bioteknik Ab Method of sequencing DNA
US6054276A (en) 1998-02-23 2000-04-25 Macevicz; Stephen C. DNA restriction site mapping
US6223128B1 (en) 1998-06-29 2001-04-24 Dnstar, Inc. DNA sequence assembly system
US6787308B2 (en) 1998-07-30 2004-09-07 Solexa Ltd. Arrayed biomolecules and their use in sequencing
GB9901475D0 (en) 1999-01-22 1999-03-17 Pyrosequencing Ab A method of DNA sequencing
US6818395B1 (en) 1999-06-28 2004-11-16 California Institute Of Technology Methods and apparatus for analyzing polynucleotide sequences
WO2001023610A2 (fr) 1999-09-29 2001-04-05 Solexa Ltd. Sequençage de polynucleotides
US6582938B1 (en) 2001-05-11 2003-06-24 Affymetrix, Inc. Amplification of nucleic acids
US6714874B1 (en) 2000-03-15 2004-03-30 Applera Corporation Method and system for the assembly of a whole genome using a shot-gun data set
US6448717B1 (en) 2000-07-17 2002-09-10 Micron Technology, Inc. Method and apparatuses for providing uniform electron beams from field emission displays
US20030224384A1 (en) 2001-11-13 2003-12-04 Khalid Sayood Divide and conquer system and method of DNA sequence assembly
RU2390561C2 (ru) 2003-05-23 2010-05-27 Колд Спринг Харбор Лэборетери Виртуальные наборы фрагментов нуклеотидных последовательностей
US20060024681A1 (en) 2003-10-31 2006-02-02 Agencourt Bioscience Corporation Methods for producing a paired tag from a nucleic acid sequence and methods of use thereof
US7393665B2 (en) 2005-02-10 2008-07-01 Population Genetics Technologies Ltd Methods and compositions for tagging and identifying polynucleotides
WO2007145612A1 (fr) 2005-06-06 2007-12-21 454 Life Sciences Corporation Séquençage d'extrémités appariées
US7329860B2 (en) 2005-11-23 2008-02-12 Illumina, Inc. Confocal imaging methods and apparatus
US7537897B2 (en) 2006-01-23 2009-05-26 Population Genetics Technologies, Ltd. Molecular counting
EP1987162A4 (fr) 2006-01-23 2009-11-25 Population Genetics Technologi Analyses d'acides nucléiques au moyen de marques de séquences
WO2007112289A2 (fr) 2006-03-23 2007-10-04 The Regents Of The University Of California Procédé permettant d'identifier et de séquencer des protéines
US20080050739A1 (en) * 2006-06-14 2008-02-28 Roland Stoughton Diagnosis of fetal abnormalities using polymorphisms including short tandem repeats
US8372584B2 (en) * 2006-06-14 2013-02-12 The General Hospital Corporation Rare cell analysis using sample splitting and DNA tags
US20080085836A1 (en) * 2006-09-22 2008-04-10 Kearns William G Method for genetic testing of human embryos for chromosome abnormalities, segregating genetic disorders with or without a known mutation and mitochondrial disorders following in vitro fertilization (IVF), embryo culture and embryo biopsy
US20080081330A1 (en) 2006-09-28 2008-04-03 Helicos Biosciences Corporation Method and devices for analyzing small RNA molecules
US7754429B2 (en) 2006-10-06 2010-07-13 Illumina Cambridge Limited Method for pair-wise sequencing a plurity of target polynucleotides
CA2672315A1 (fr) 2006-12-14 2008-06-26 Ion Torrent Systems Incorporated Procedes et appareil permettant de mesurer des analytes en utilisant des matrices de tec a grande echelle
US8349167B2 (en) 2006-12-14 2013-01-08 Life Technologies Corporation Methods and apparatus for detecting molecular interactions using FET arrays
US8262900B2 (en) 2006-12-14 2012-09-11 Life Technologies Corporation Methods and apparatus for measuring analytes using large scale FET arrays
CN101652780B (zh) 2007-01-26 2012-10-03 伊鲁米那股份有限公司 核酸测序系统以及方法
US20090119313A1 (en) 2007-11-02 2009-05-07 Ioactive Inc. Determining structure of binary data using alignment algorithms
US20090298064A1 (en) 2008-05-29 2009-12-03 Serafim Batzoglou Genomic Sequencing
US20100035252A1 (en) 2008-08-08 2010-02-11 Ion Torrent Systems Incorporated Methods for sequencing individual nucleic acids under tension
US20100063742A1 (en) 2008-09-10 2010-03-11 Hart Christopher E Multi-scale short read assembly
US8383345B2 (en) 2008-09-12 2013-02-26 University Of Washington Sequence tag directed subassembly of short sequencing reads into long sequencing reads
US8546128B2 (en) 2008-10-22 2013-10-01 Life Technologies Corporation Fluidics system for sequential delivery of reagents
US20100301398A1 (en) 2009-05-29 2010-12-02 Ion Torrent Systems Incorporated Methods and apparatus for measuring analytes
US20100137143A1 (en) 2008-10-22 2010-06-03 Ion Torrent Systems Incorporated Methods and apparatus for measuring analytes
US20110301042A1 (en) 2008-11-11 2011-12-08 Helicos Biosciences Corporation Methods of sample encoding for multiplex analysis of samples by single molecule sequencing
EP2511843B1 (fr) 2009-04-29 2016-12-21 Complete Genomics, Inc. Procédé et système pour appeler des variations dans une séquence polynucléotidique d'échantillon par rapport à une séquence polynucléotidique de référence
US8574835B2 (en) 2009-05-29 2013-11-05 Life Technologies Corporation Scaffolded nucleic acid polymer particles and methods of making and using
US8673627B2 (en) 2009-05-29 2014-03-18 Life Technologies Corporation Apparatus and methods for performing electrochemical reactions
US20120270739A1 (en) * 2010-01-19 2012-10-25 Verinata Health, Inc. Method for sample analysis of aneuploidies in maternal samples
US9732138B2 (en) * 2010-02-09 2017-08-15 Yale University Loss of function mutations in KCNJ10 cause SeSAME, a human syndrome with sensory, neurological, and renal deficits
US10351905B2 (en) * 2010-02-12 2019-07-16 Bio-Rad Laboratories, Inc. Digital analyte analysis
US20110257889A1 (en) 2010-02-24 2011-10-20 Pacific Biosciences Of California, Inc. Sequence assembly and consensus sequence determination
US8700338B2 (en) * 2011-01-25 2014-04-15 Ariosa Diagnosis, Inc. Risk calculation for evaluation of fetal aneuploidy
CN103608818B (zh) * 2011-02-09 2017-12-08 纳特拉公司 非侵入性产前倍性识别装置
US10196681B2 (en) * 2011-10-06 2019-02-05 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US8209130B1 (en) 2012-04-04 2012-06-26 Good Start Genetics, Inc. Sequence assembly
EP2958574A4 (fr) * 2013-01-23 2016-11-02 Reproductive Genetics And Technology Solutions Llc Compositions et procédés pour l'analyse génétique d'embryons
IL309903A (en) * 2013-05-24 2024-03-01 Sequenom Inc Methods and processes for non-invasive evaluation of genetic variations
US10851414B2 (en) * 2013-10-18 2020-12-01 Good Start Genetics, Inc. Methods for determining carrier status

Patent Citations (5)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US20110288780A1 (en) * 2010-05-18 2011-11-24 Gene Security Network Inc. Methods for Non-Invasive Prenatal Ploidy Calling
US20140206552A1 (en) * 2010-05-18 2014-07-24 Natera, Inc. Methods for preimplantation genetic diagnosis by sequencing
US20140228226A1 (en) * 2011-09-21 2014-08-14 Bgi Health Service Co., Ltd. Method and system for determining chromosome aneuploidy of single cell
WO2013052557A2 (fr) * 2011-10-03 2013-04-11 Natera, Inc. Procédés pour diagnostic génétique préimplantatoire par séquençage
WO2013148496A1 (fr) * 2012-03-26 2013-10-03 The Johns Hopkins University Détection rapide d'aneuploïdie

Non-Patent Citations (2)

* Cited by examiner, † Cited by third party
Title
KINDE, I., ET AL.: ""FAST-SeqS: a simple and efficient method for the detection of aneuploidy by massively parallel sequ", PLOS ONE, vol. 7, no. 7, JPN6019025818, July 2012 (2012-07-01), pages 41162 - 1, ISSN: 0004501233 *
末岡浩: "「着床前診断のいま」", 医学のあゆみ, vol. 246, no. 2, JPN6020015752, 13 July 2013 (2013-07-13), pages 165 - 169, ISSN: 0004270603 *

Also Published As

Publication number Publication date
JP2021184757A (ja) 2021-12-09
CA3002133A1 (fr) 2016-04-21
EP3240909A4 (fr) 2018-07-04
US20160108475A1 (en) 2016-04-21
WO2016061514A1 (fr) 2016-04-21
EP3240909A1 (fr) 2017-11-08
EP3835429A1 (fr) 2021-06-16
EP3240909B1 (fr) 2020-10-14

Similar Documents

Publication Publication Date Title
US11667965B2 (en) Sequence assembly
US20210057045A1 (en) Determining the Clinical Significance of Variant Sequences
US10706017B2 (en) Methods and systems for storing sequence read data
US9228233B2 (en) Analysis methods
JP2021184757A (ja) 着床前遺伝子スクリーニングおよび異数性検出
US20230235394A1 (en) Chimeric amplicon array sequencing
US20190295690A1 (en) Variant detection of sequencing assays

Legal Events

Date Code Title Description
A621 Written request for application examination

Free format text: JAPANESE INTERMEDIATE CODE: A621

Effective date: 20180831

A977 Report on retrieval

Free format text: JAPANESE INTERMEDIATE CODE: A971007

Effective date: 20190628

A131 Notification of reasons for refusal

Free format text: JAPANESE INTERMEDIATE CODE: A131

Effective date: 20190704

A601 Written request for extension of time

Free format text: JAPANESE INTERMEDIATE CODE: A601

Effective date: 20190930

A601 Written request for extension of time

Free format text: JAPANESE INTERMEDIATE CODE: A601

Effective date: 20191203

A521 Request for written amendment filed

Free format text: JAPANESE INTERMEDIATE CODE: A523

Effective date: 20200106

A131 Notification of reasons for refusal

Free format text: JAPANESE INTERMEDIATE CODE: A131

Effective date: 20200529

A601 Written request for extension of time

Free format text: JAPANESE INTERMEDIATE CODE: A601

Effective date: 20200824

A601 Written request for extension of time

Free format text: JAPANESE INTERMEDIATE CODE: A601

Effective date: 20201028

A521 Request for written amendment filed

Free format text: JAPANESE INTERMEDIATE CODE: A523

Effective date: 20201130

A02 Decision of refusal

Free format text: JAPANESE INTERMEDIATE CODE: A02

Effective date: 20210507

A521 Request for written amendment filed

Free format text: JAPANESE INTERMEDIATE CODE: A523

Effective date: 20210907

C60 Trial request (containing other claim documents, opposition documents)

Free format text: JAPANESE INTERMEDIATE CODE: C60

Effective date: 20210907

C11 Written invitation by the commissioner to file amendments

Free format text: JAPANESE INTERMEDIATE CODE: C11

Effective date: 20210915

A911 Transfer to examiner for re-examination before appeal (zenchi)

Free format text: JAPANESE INTERMEDIATE CODE: A911

Effective date: 20211116

C21 Notice of transfer of a case for reconsideration by examiners before appeal proceedings

Free format text: JAPANESE INTERMEDIATE CODE: C21

Effective date: 20211117

A761 Written withdrawal of application

Free format text: JAPANESE INTERMEDIATE CODE: A761

Effective date: 20211125